ClinVar Miner

Submissions for variant NM_032382.5(COG8):c.*26+5G>C

gnomAD frequency: 0.00001  dbSNP: rs1489510736
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University RCV001420141 SCV001622402 uncertain significance COG8-congenital disorder of glycosylation 2021-05-13 criteria provided, single submitter clinical testing

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